Canonical Allele Identifier: PA2826215558
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375827
ClinVar RCV Id: RCV000417270
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Pro493Leu
CA16602341
NM_001195800.2:c.1478C>T